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    ZNF764 zinc finger protein 764 [ Homo sapiens (human) ]

    Gene ID: 92595, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF764provided by HGNC
    Official Full Name
    zinc finger protein 764provided by HGNC
    Primary source
    HGNC:HGNC:28200
    See related
    Ensembl:ENSG00000169951 MIM:619524; AllianceGenome:HGNC:28200
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 2.6), stomach (RPKM 2.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    16p11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30553764..30558374, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30940731..30945341, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30565085..30569695, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ZNF747 divergent transcript Neighboring gene RPL7L1 pseudogene 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30552221-30552866 Neighboring gene uncharacterized LOC124903677 Neighboring gene Sharpr-MPRA regulatory region 8694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30564727-30565226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30568583-30569144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10713 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30580811-30581376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30581377-30581940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7379 Neighboring gene zinc finger protein 688 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30596216-30596816 Neighboring gene zinc finger protein 785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30597418-30598018 Neighboring gene zinc finger protein 689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7381 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30621737-30622706 Neighboring gene uncharacterized LOC124903678

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion. Kino T, et al. J Clin Endocrinol Metab, 2012 Aug. PMID 22577170, Free PMC Article
    2. Genome-wide Regulatory Roles of the C2H2-type Zinc Finger Protein ZNF764 on the Glucocorticoid Receptor. Fadda A, et al. Sci Rep, 2017 Jan 31. PMID 28139699, Free PMC Article
    3. Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. Nozawa RS, et al. Nat Cell Biol, 2010 Jul. PMID 20562864
    4. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. Vizeacoumar FJ, et al. Mol Syst Biol, 2013 Oct 8. PMID 24104479, Free PMC Article
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. effect of ZNF764 on the glucocorticoid receptor transcriptional activity was mediated through cooperation with a general nuclear hormone receptor coactivator, transcriptional intermediary factor 1
      Title: ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC13138

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coregulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to glucocorticoid stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein 764

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001172679.2 → NP_001166150.1  zinc finger protein 764 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (2) lacks one internal amino acid, compared to isoform 1.
      Source sequence(s)
      AC002310, AK093992, BC008821, BF725095
      Consensus CDS
      CCDS54001.1
      UniProtKB/Swiss-Prot
      Q96H86
      Related
      ENSP00000378526.2, ENST00000395091.3
      Conserved Domains (5) summary
      smart00349
      Location:26 → 85
      KRAB; krueppel associated box
      COG5048
      Location:228 → 293
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:232 → 252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:26 → 65
      KRAB; KRAB box
      pfam13465
      Location:300 → 325
      zf-H2C2_2; Zinc-finger double domain

    2. NM_033410.4 → NP_219363.2  zinc finger protein 764 isoform 1

      See identical proteins and their annotated locations for NP_219363.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC002310, AK093992, BC008821, BF725095
      Consensus CDS
      CCDS10683.1
      UniProtKB/Swiss-Prot
      A8MZF4, B3KSN2, H9KV99, Q96H86, Q9BWS1
      Related
      ENSP00000252797.2, ENST00000252797.6
      Conserved Domains (5) summary
      smart00349
      Location:26 → 85
      KRAB; krueppel associated box
      COG5048
      Location:229 → 294
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:233 → 253
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:26 → 65
      KRAB; KRAB box
      pfam13465
      Location:301 → 326
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30553764..30558374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30940731..30945341 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96H86.2 GenPept UniProtKB/Swiss-Prot:Q96H86

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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